Radiological features of neonatal mucolipidosis II (I-cell disease): a case report.


A case of mucolipidosis II (I-cell disease) in the early neonatal period is reported. The infant showed severe skeletal changes including diffuse periosteal new bone formation of long bones and ribs, marked osteopenia, resorption of scapula, clavicula, and mandible, and irregular demineralization of metaphyses of long tubular bones. Early skeletal… (More)